Why the study?
Does exome sequencing identify clinically important secondary cardiac disease variants in an unselected cohort?
Does exome sequencing identify clinically important secondary cardiac disease variants in an unselected cohort?
Clinically important secondary variants for cardiomyopathies and arrhythmias can be identified in approximately 0.5% of unselected exomes, often correlating with subclinical or clinical phenotypes.
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Secondary cardiac variants may warrant reporting in exome sequencing; leaves open clinical impact and actionability in unselected cohorts.
Ng et al. (2013) studied this question.
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